P54S (p.Pro54Ser) variant of POGZ (Q7Z3K3)
P54S (p.Pro54Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- TOPMed rs1181400367
- gnomAD rs1181400367
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available